Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1282
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type IV alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL4A1
Synonyms (NCBI Gene) Gene synonyms aliases
BSVD, BSVD1, COL4A1s, PADMAL, RATOR
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BSVD1, PADMAL, RATOR
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q34
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs75711155 A>C Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs113994104 C>A,T Pathogenic Missense variant, coding sequence variant
rs113994105 C>T Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs113994106 C>T Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs113994107 C>T Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001927 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT001927 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT003221 hsa-miR-29a-3p Luciferase reporter assay, qRT-PCR, Western blot 20067797
MIRT003221 hsa-miR-29a-3p Luciferase reporter assay, qRT-PCR, Western blot 20067797
MIRT003221 hsa-miR-29a-3p Luciferase reporter assay, qRT-PCR, Western blot 20067797
Transcription factors
Transcription factor Regulation Reference
LMX1B Unknown 12602071
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001569 Process Branching involved in blood vessel morphogenesis IMP 20818663
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005201 Function Extracellular matrix structural constituent IMP 20818663
GO:0005515 Function Protein binding IPI 12011424
GO:0005576 Component Extracellular region NAS 14718574
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120130 2202 ENSG00000187498
Protein
UniProt ID P02462
Protein name Collagen alpha-1(IV) chain [Cleaved into: Arresten]
Protein function Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. ; Arresten, compris
PDB 1LI1 , 5NAX , 5NAY , 6MPX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 37 105 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 61 138 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 97 162 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 167 225 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 273 334 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 474 533 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 539 592 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 643 690 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 689 737 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 736 801 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 837 896 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 882 941 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 943 1005 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 999 1058 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1057 1117 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1384 1443 Collagen triple helix repeat (20 copies) Repeat
PF01413 C4 1446 1553 C-terminal tandem repeated domain in type 4 procollagen Domain
PF01413 C4 1556 1667 C-terminal tandem repeated domain in type 4 procollagen Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta. {ECO:0000269|PubMed:10811134, ECO:0000269|PubMed:16481288}.
Sequence
MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVI
GFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPP
GIPGCNGTKGERGPLGPP
GLPGFAGNPGPPGLPGMKGDPGEI
LGHVPGMLLKGERGFPGI
PGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQ
GPKGDKGDQGVSGPP
GVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGS
PGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIV
IGTGPLGEKGERGYPGTPGPRGEPGP
KGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPG
PPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPG
PQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEF
YFDLRLK
GDKGDPGFPGQPGMPGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGPPGGVG
FPGSRGDT
GPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFP
GPQGDRGFPGTPGRPGLPGEKGAVGQPG
IGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNG
LPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPGEHGAIGPPGLQGI
RGEPGPPGLPGSVGSPGVPGI
GPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPG
PKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEM
GVMGTPGQPGSPGPVGAPG
LPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKV
DMGSMKGQKGDQGEKGQIG
PIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGIS
GTPGAPGLPGPKGSVGGMGLPG
TPGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGE
KGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEK
GDKGLPGLDGIPGVKGEAGLPGT
PGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSP
GIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPG
IDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKG
LPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPK
GQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTP
SVD
HGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTM
PFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEA
PAMVMAV
HSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRG
TCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMR
RT
Sequence length 1669
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Brain Small Vessel Disease with or without ocular anomalies brain small vessel disease 1 with or without ocular anomalies GenCC
Hematuria autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome GenCC
Muscular dystrophy muscular dystrophy-dystroglycanopathy, type A GenCC
Myocardial Infarction Myocardial Infarction GWAS
Associations from Text Mining
Disease Name Relationship Type References
13q deletion syndrome Associate 28393221
Adenocarcinoma Associate 33905434, 36452120
Alveolar capillary dysplasia Associate 38029923
Alzheimer Disease Associate 34551193, 37264161
Anemia Hemolytic Associate 24861536
Angiopathy Hereditary With Nephropathy Aneurysms And Muscle Cramps Associate 18160688, 19949034, 22522439, 25873210, 27190376, 29395486
Arthritis Rheumatoid Associate 29482039
Astrocytoma Associate 23737970
Atherosclerosis Associate 29482039
Autistic Disorder Associate 28846756, 32499604